XFE progeroid syndrome
MONDO:0012590A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13.
Also known as: XFE progeroid syndrome, XFEPS, XPF-ERCC1 progeroid syndrome
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